Left Ventricular Noncompaction Cardiomyopathy
Gene: MYBPC3

MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 9 panels

2 reviews

Caroline Wright (Genomics England Curator)

Comment when marking as ready: lots of evidence in cardiomyopathy
Created: 11 Feb 2016, 1:20 p.m.

Created: 11 Feb 2016, 1:20 p.m.

Panel version: 0.4

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Eligibility statement prior genetic testing
Expert list
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy

OMIM

600958

Clinvar variants

Variants in MYBPC3

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2